ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.456_457del (p.Ser154fs) (rs760731888)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000479641 SCV000335826 pathogenic not provided 2015-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000479641 SCV000572858 pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The c.456_457delAC pathogenic variant in the FKTN gene has not previously been reported to our knowledge. This variant causes a shift in reading frame starting at codon Serine 154, changing it to a Tryptophan, and creating a premature stop codon at position 3 of the new reading frame, denoted p.Ser154TrpfsX3. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other downstream frameshift variants in the FKTN gene have been reported in Human Gene Mutation Database in association with FKTN-associated disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.456_457delAC variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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